Carnitine palmitoyltransferase II deficiency associated with tubular aggregates.
2002-01-01 Musumeci, Olimpia; Monici, Mc; Aguennouz, M; Rodolico, C; Vita, G; Toscano, Antonio
Carnitine palmitoyltransferase II deficiency associated with tubular aggregates.
2002-01-01 Musumeci, Olimpia; Monici, Mc; Aguennouz, M'Hammed; Rodolico, Carmelo; Vita, G; Toscano, Antonio
Myopathy and muscle carnitine deficiency in a patient with low serum testosterone.
2002-01-01 Toscano, Antonio; Musumeci, Olimpia; Rodolico, Carmelo; Aguennouz, M'Hammed; Vita, G.
Skeletal muscle lipid storage and mitochondrial beta-oxidation.
2001-01-01 Toscano, Antonio; Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Autunno, M; Musumeci, Olimpia; Vita, G.
Coenzyme Q10 deficiency in previously unclassified cerebellar ataxia
2001-01-01 Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S.
Calpain 3 expression in limb-girdle muscular dystrophy type 2A (LGMD 2A).
2001-01-01 Aguennouz, M'Hammed; Monici, Mc; Musumeci, Olimpia; Rodolico, Carmelo; Ciranni, A; Toscano, Antonio; Vita, G.
Coenzyme Q10 deficiency in previously unclassified cerebellar ataxia
2001-01-01 Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S.
Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency.
2000-01-01 Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio
Central and perypheral nervous system involvement in hereditary coproporphyria.
1998-01-01 Rodolico, Carmelo; Toscano, Antonio; Valenti, M.; Musumeci, Olimpia; Macaione, Vincenzo; Vita, Giuseppe
Lipid peroxidation, free radicals and antioxidants in patients with myotonic distrophy.
1999-01-01 Toscano, Antonio; Annesi, G.; Campo, Giuseppe Maurizio; Musumeci, Olimpia; Rodolico, Carmelo; Spadafora, P.; Pasqua, A. A.; Annesi, F.; Annesi, A.; Caputi, A.; Vita, G. .
A benign case of congenital myotonic dystrophy
1998-01-01 Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G.
A cytochemical study of apoptosis in metabolic myopathies
1997-01-01 Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G.
A study of auditory system in 20 patients with late onset Pompe disease
2011-01-01 Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; Toscano, Antonio
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease
2012-01-01 Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A; Toscano, Antonio
Muscle channelopathies: clinical and molecular genetic studies in a cohort of Italian patients
2011-01-01 Portaro, S.; Sweeney, M. G.; Matthews, E.; Sud, R.; Musumeci, Olimpia; Rodolico, Carmelo; Vita, G.; Toscano, Antonio; Hanna, M. G.
Clinical and molecular genetic studies of a cohort of Italian patients with muscle channelopathies
2011-01-01 Portaro, S.; Sweeney, M. G.; Matthews, E.; Sud, R.; Musumeci, Olimpia; Rodolico, Carmelo; Vita, G.; Toscano, Antonio; Hanna, M. G.
Differential expression of microRNAs in primary and secondary calpainopathies
2010-01-01 Aguennouz, M'Hammed; Musumeci, Olimpia; Rodolico, Carmelo; Garufi, A.; Barca, Emanuele; Vita, G.; Toscano, Antonio
Clinico-genetic characterization of a large italian cohort with primary spastic paraplegia;
2011-01-01 Martinuzzi, A; Bassi, Mt; D'Angelo, Mg; Bonato, S; Paparella, G; Musumeci, Olimpia; Rossetto, Mg; Fantin, M; Peruch, F; Arnoldi, A; Crimella, C; Tenderini, E; Bonanni, P; Casanova, V; Meola, G; Comi, Gp; Toscano, Antonio; Bresolin, N.
Role of the autophagic process in adult-onset patients with Pompe disease
2010-01-01 Musumeci, Olimpia; Aguennouz, M.; Mongini, T.; Palmucci, L.; Barca, Emanuele; Vita, G.; Toscano, Antonio
Differential expression of microRNAs in primary and secondary calpainopathies
2010-01-01 Aguennouz, M.; Musumeci, Olimpia; Rodolico, Carmelo; Garufi, A.; Barca, Emanuele; Vita, G.; Toscano, Antonio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Carnitine palmitoyltransferase II deficiency associated with tubular aggregates. | 1-gen-2002 | Musumeci, Olimpia; Monici, Mc; Aguennouz, M; Rodolico, C; Vita, G; Toscano, Antonio | |
| Carnitine palmitoyltransferase II deficiency associated with tubular aggregates. | 1-gen-2002 | Musumeci, Olimpia; Monici, Mc; Aguennouz, M'Hammed; Rodolico, Carmelo; Vita, G; Toscano, Antonio | |
| Myopathy and muscle carnitine deficiency in a patient with low serum testosterone. | 1-gen-2002 | Toscano, Antonio; Musumeci, Olimpia; Rodolico, Carmelo; Aguennouz, M'Hammed; Vita, G. | |
| Skeletal muscle lipid storage and mitochondrial beta-oxidation. | 1-gen-2001 | Toscano, Antonio; Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Autunno, M; Musumeci, Olimpia; Vita, G. | |
| Coenzyme Q10 deficiency in previously unclassified cerebellar ataxia | 1-gen-2001 | Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S. | |
| Calpain 3 expression in limb-girdle muscular dystrophy type 2A (LGMD 2A). | 1-gen-2001 | Aguennouz, M'Hammed; Monici, Mc; Musumeci, Olimpia; Rodolico, Carmelo; Ciranni, A; Toscano, Antonio; Vita, G. | |
| Coenzyme Q10 deficiency in previously unclassified cerebellar ataxia | 1-gen-2001 | Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S. | |
| Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency. | 1-gen-2000 | Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio | |
| Central and perypheral nervous system involvement in hereditary coproporphyria. | 1-gen-1998 | Rodolico, Carmelo; Toscano, Antonio; Valenti, M.; Musumeci, Olimpia; Macaione, Vincenzo; Vita, Giuseppe | |
| Lipid peroxidation, free radicals and antioxidants in patients with myotonic distrophy. | 1-gen-1999 | Toscano, Antonio; Annesi, G.; Campo, Giuseppe Maurizio; Musumeci, Olimpia; Rodolico, Carmelo; Spadafora, P.; Pasqua, A. A.; Annesi, F.; Annesi, A.; Caputi, A.; Vita, G. . | |
| A benign case of congenital myotonic dystrophy | 1-gen-1998 | Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G. | |
| A cytochemical study of apoptosis in metabolic myopathies | 1-gen-1997 | Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G. | |
| A study of auditory system in 20 patients with late onset Pompe disease | 1-gen-2011 | Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; Toscano, Antonio | |
| A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease | 1-gen-2012 | Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A; Toscano, Antonio | |
| Muscle channelopathies: clinical and molecular genetic studies in a cohort of Italian patients | 1-gen-2011 | Portaro, S.; Sweeney, M. G.; Matthews, E.; Sud, R.; Musumeci, Olimpia; Rodolico, Carmelo; Vita, G.; Toscano, Antonio; Hanna, M. G. | |
| Clinical and molecular genetic studies of a cohort of Italian patients with muscle channelopathies | 1-gen-2011 | Portaro, S.; Sweeney, M. G.; Matthews, E.; Sud, R.; Musumeci, Olimpia; Rodolico, Carmelo; Vita, G.; Toscano, Antonio; Hanna, M. G. | |
| Differential expression of microRNAs in primary and secondary calpainopathies | 1-gen-2010 | Aguennouz, M'Hammed; Musumeci, Olimpia; Rodolico, Carmelo; Garufi, A.; Barca, Emanuele; Vita, G.; Toscano, Antonio | |
| Clinico-genetic characterization of a large italian cohort with primary spastic paraplegia; | 1-gen-2011 | Martinuzzi, A; Bassi, Mt; D'Angelo, Mg; Bonato, S; Paparella, G; Musumeci, Olimpia; Rossetto, Mg; Fantin, M; Peruch, F; Arnoldi, A; Crimella, C; Tenderini, E; Bonanni, P; Casanova, V; Meola, G; Comi, Gp; Toscano, Antonio; Bresolin, N. | |
| Role of the autophagic process in adult-onset patients with Pompe disease | 1-gen-2010 | Musumeci, Olimpia; Aguennouz, M.; Mongini, T.; Palmucci, L.; Barca, Emanuele; Vita, G.; Toscano, Antonio | |
| Differential expression of microRNAs in primary and secondary calpainopathies | 1-gen-2010 | Aguennouz, M.; Musumeci, Olimpia; Rodolico, Carmelo; Garufi, A.; Barca, Emanuele; Vita, G.; Toscano, Antonio |
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Scopri
Tipologia
- 14.a Contributo in Rivista3400
Data di pubblicazione
- In corso di stampa7
- 2020 - 2026224
- 2010 - 20191578
- 2000 - 20091391
- 1990 - 1999154
- 1980 - 198943
- 1976 - 19793
Editore
- Elsevier12
- Oxford University Press12
- Oxford Academic, Elsevier Science10
- Springer10
- OXFORD UNIV PRESS8
- Karger7
- SPRINGER7
- Wiley7
- karger6
- Oxford Academic5
Rivista
- NEUROLOGICAL SCIENCES96
- GIORNALE ITALIANO DI PSICOPATOLOGIA89
- EUROPEAN JOURNAL OF NUCLEAR MEDIC...78
- GIORNALE ITALIANO DI CARDIOLOGIA69
- MINERVA ANESTESIOLOGICA63
- ANNALS OF ONCOLOGY59
- NEUROMUSCULAR DISORDERS52
- EUROPEAN HEART JOURNAL SUPPLEMENTS50
- HORMONE RESEARCH IN PAEDIATRICS49
- IGIENE E SANITÀ PUBBLICA46
Keyword
- osteoporosis13
- children6
- ADHD4
- bone mineral density4
- Breast cancer4
- congenital hypothyroidism4
- aromatase inhibitors3
- bone turn-over3
- breast cancer3
- DNA Barcoding3
Lingua
- eng2149
- ita396
- fre2
- spa2
- pol1
Accesso al fulltext
- no fulltext3272
- restricted81
- open41
- reserved6